Takahito Moriwaki
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View article: Triclabendazole suppresses cellular levels of glycosaminoglycan—A potential therapeutic agent for mucopolysaccharidoses and related diseases
Triclabendazole suppresses cellular levels of glycosaminoglycan—A potential therapeutic agent for mucopolysaccharidoses and related diseases Open
View article: Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy
Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy Open
View article: A case series of Fabry diseases with CKD in Japan
A case series of Fabry diseases with CKD in Japan Open
View article: HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis
HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis Open
Vesicular transport driven by membrane trafficking systems conserved in eukaryotes is critical to cellular functionality and homeostasis. It is known that homotypic fusion and vacuole protein sorting (HOPS) and class C core endosomal vacuo…
View article: A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay Open
We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperext…
View article: Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) Open
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment…
View article: A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines Open
We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko’s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stif…
View article: A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome Open
View article: Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome Open
Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradatio…
View article: High-Dose Irradiation Inhibits Motility and Induces Autophagy in Caenorhabditis elegans
High-Dose Irradiation Inhibits Motility and Induces Autophagy in Caenorhabditis elegans Open
Radiation damages many cellular components and disrupts cellular functions, and was previously reported to impair locomotion in the model organism Caenorhabditis elegans. However, the response to even higher doses is not clear. First, to i…
View article: PRDX1 is essential for the viability and maintenance of reactive oxygen species in chicken DT40
PRDX1 is essential for the viability and maintenance of reactive oxygen species in chicken DT40 Open
Background Peroxiredoxin 1 (PRDX1) is a member of a ubiquitous family of thiol peroxidases that catalyze the reduction of peroxides, including hydrogen peroxide. It functions as an antioxidant enzyme, similar to catalase and glutathione pe…
View article: Nicaraven Attenuates Postoperative Systemic Inflammatory Responses-Induced Tumor Metastasis
Nicaraven Attenuates Postoperative Systemic Inflammatory Responses-Induced Tumor Metastasis Open
Background Inflammation has been demonstrated to promote cancer metastasis. Due to the well-known systemic inflammatory responses (SIR) after major surgery, it is critical to investigate and attenuate SIR-induced tumor metastasis of cancer…
View article: CiApex1 has AP endonuclease activity and abrogated AP site repair disrupts early embryonic development in <i>Ciona intestinalis</i>
CiApex1 has AP endonuclease activity and abrogated AP site repair disrupts early embryonic development in <i>Ciona intestinalis</i> Open
Apurinic/apyrimidinic (AP) sites are the most common form of cytotoxic DNA damage. Since AP sites inhibit DNA replication and transcription, repairing them is critical for cell growth. However, the significance of repairing AP sites during…
View article: The nationwide cancer genome screening project in Japan, SCRUM-Japan GI-SCREEN: Efficient identification of cancer genome alterations in advanced esophageal cancer
The nationwide cancer genome screening project in Japan, SCRUM-Japan GI-SCREEN: Efficient identification of cancer genome alterations in advanced esophageal cancer Open
Background: We have conducted the Nationwide Cancer Genome Screening Project in Japan since April 2015 using Next Generation Sequencing in advanced non-colorectal gastrointestinal (GI) cancer (aNon-CRC), called as the SCRUM-Japan GI-SCREEN…
View article: ATM Induces Cell Death with Autophagy in Response to H<sub>2</sub>O<sub>2</sub>Specifically in<i>Caenorhabditis elegans</i>Nondividing Cells
ATM Induces Cell Death with Autophagy in Response to H<sub>2</sub>O<sub>2</sub>Specifically in<i>Caenorhabditis elegans</i>Nondividing Cells Open
Introduction . Ataxia‐telangiectasia‐mutated (ATM) kinase is a master regulator of the DNA damage response and is directly activated by reactive oxygen species (ROSs) in addition to DNA double‐stranded breaks. However, the physiological fu…
View article: Selective cytotoxicity of the anti-diabetic drug, metformin, in glucose-deprived chicken DT40 cells
Selective cytotoxicity of the anti-diabetic drug, metformin, in glucose-deprived chicken DT40 cells Open
Metformin is a biguanide drug that is widely used in the treatment of diabetes. Epidemiological studies have indicated that metformin exhibits anti-cancer activity. However, the molecular mechanisms underlying this activity currently remai…
View article: A novel DNA damage response mediated by DNA mismatch repair in Caenorhabditis elegans: induction of programmed autophagic cell death in non-dividing cells
A novel DNA damage response mediated by DNA mismatch repair in Caenorhabditis elegans: induction of programmed autophagic cell death in non-dividing cells Open
DNA mismatch repair (MMR) contributes to genome integrity by correcting errors of DNA polymerase and inducing cell death in response to DNA damage. Dysfunction of MMR results in increased mutation frequency and cancer risk. Clinical resear…